Sugita K, Kakinuma H, Okajima Y, Ogawa A, Watanabe H, Niimi H
Department of Pediatrics, Faculty of Medicine, University of Chiba, Japan.
Brain Dev. 1995 Mar-Apr;17(2):139-41; discussion 144-5. doi: 10.1016/0387-7604(94)00123-f.
We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids showed persistent excretion of D-2-HG. The clinical manifestations are quite similar to those of the 2nd reported case with D-2-HG aciduria. Serial MRI performed 1 year and 2 1/2 years after birth demonstrated bilateral symmetrical periventricular lesions in the parieto-occipital white matter, which might reflect the cortical blindness in our patient.
我们报告了文献中第3例患D-2-羟基戊二酸（D-2-HG）尿症的3岁男孩，该患儿在新生儿期主要表现为全身肌张力减退和喂养困难，最终发展为全身性肌阵挛发作。尿有机酸的气相色谱分析显示D-2-HG持续排泄。其临床表现与第2例报道的D-2-HG尿症病例非常相似。出生后1年和2年半进行的系列磁共振成像（MRI）显示双侧顶枕白质对称的脑室周围病变，这可能反映了我们患者的皮质盲。
